Gene Gene information from NCBI Gene database.
Entrez ID 342371
Gene name Ataxin 1 like
Gene symbol ATXN1L
Synonyms (NCBI Gene)
BOATBOAT1
Chromosome 16
Chromosome location 16q22.2
miRNA miRNA information provided by mirtarbase database.
1407
miRTarBase ID miRNA Experiments Reference
MIRT051885 hsa-let-7b-5p CLASH 23622248
MIRT048295 hsa-miR-107 CLASH 23622248
MIRT660421 hsa-miR-543 HITS-CLIP 23824327
MIRT660420 hsa-miR-501-5p HITS-CLIP 23824327
MIRT660419 hsa-miR-549a HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IBA
GO:0003723 Function RNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614301 33279 ENSG00000224470
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0C7T5
Protein name Ataxin-1-like (Brother of ataxin-1) (Brother of ATXN1)
Protein function Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression (PubMed:21475249). Can sup
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08517 AXH 469 582 Ataxin-1 and HBP1 module (AXH) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in cerebellum and cerebral cortex. {ECO:0000269|PubMed:16121196}.
Sequence
MKPVHERSQECLPPKKRDLPVTSEDMGRTTSCSTNHTPSSDASEWSRGVVVAGQSQAGAR
VSLGGDGAEAITGLTVDQYGMLYKVAVPPATFSPTGLPSVVNMSPLPPTFNVASSLIQHP
GIHYPPLHYAQLPSTSLQFIGSPYSLPYAVPPNFLPSPLLSPSANLATSHLPHFVPYASL
LAEGATPPPQAPSPAHSFNKAPSATSPSGQLPHHSSTQPLDLAPGRMPIYYQMSRLPAGY
TLHETPPAGASPVLTPQESQSALEAAAANGGQRPRERNLVRRESEALDSPNSKGEGQGLV
PVVECVVDGQLFSGSQTPRVEVAAPAHRGTPDTDLEVQRVVGALASQDYRVVAAQRKEEP
SPLNLSHHTPDHQGEGRGSARNPAELAEKSQARGFYPQSHQEPVKHRPLPKAMVVANGNL
VPTGTDSGLLPVGSEILVASSLDVQARATFPDKEPTPPPITSSHLPSHFMKGAIIQLATG
ELKRVEDLQTQDFVRSAEVSGGLKIDSSTVVDIQESQWPGFVMLHFVVGEQQSKVSIEVP
PEHPFFVYGQGWSSCSPGRTTQLFSLPCHRLQVGDVCISISL
QSLNSNSVSQASCAPPSQ
LGPPRERPERTVLGSRELCDSEGKSQPAGEGSRVVEPSQPESGAQACWPAPSFQRYSMQG
EEARAALLRPSFIPQEVKLSIEGRSNAGK
Sequence length 689
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Notch signaling pathway
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATAXIA, SPINOCEREBELLAR Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Sarcoma Associate 35836290
★☆☆☆☆
Found in Text Mining only